Volumen: 16 # Number : 3
Publication Date : Septiembre - Diciembre Year: 2012
Authors: Belli C.B., Bestach Y., Flores M.G., Sieza Y., Gelemur M.,
Abstract: Myelodysplastic Syndromes (MDS) constitute a heterogeneous
group of clonal hematological diseases characterized
by refractory cytopenia(s) as a result of an
ineffective hematopoiesis. MDS patients show increased
levels of Tumor Necrosis Factor alpha (TNFa) which is
a multifunctional proinflammatory cytokine. The aim of
this work is to examine the presence of -308G/A TNFα
variants and to analyze whether it is associated with clinical
parameters in a cohort of 107 Argentinean de novo
MDS patients. The A/A+A/G genotype at TNFα -308
was overrepresented 2-fold in our population (p=0.0356, odds ratio-OR: 2.208). The presence of the high expressing
-308A allele was associated with lower hemoglobin
level (8.7 vs 9.9 g/dL; p=0.0240), reduced platelet counts
(95000 vs 135000 /μL; p=0.0359) and younger age (61 vs 68
years; p=0.0131) at diagnosis. Also, these patients showed
4-fold higher risk of transfusion requirement (78% vs
47%, p=0.0070) during the follow up. In conclusion, the
presence of an inherited -308A TNFα, which increases
its transcription level, was associated with MDS phenotype
in our cohort of Argentine MDS patients. And,
an overexpression of TNFα may promote an underlying
proinflammatory state that cooperates with intrinsic defects
within MDS progenitors to increase the severity of
certain phenotypic features of the disease.
Key words: Myelodysplastic Syndromes, TNFα, anemia,
thrombocytopenia
Pages : 147-153
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